Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 0 1 2.6E-03 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 1 2.6E-03 0 0
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		109 0 1 2.6E-03 0 0
CUI: C0033774
Disease: Pruritus
Pruritus 		107 0 1 2.7E-03 0 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		105 0 1 2.7E-03 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 1 2.7E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 1 2.7E-03 0 0
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		102 0 1 2.7E-03 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 1 2.7E-03 0 0
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		96 0 1 2.7E-03 0 0
CUI: C0850703
Disease: Frequent falls
Frequent falls 		94 0 1 2.8E-03 0 0
CUI: C0566620
Disease: Nasal voice
Nasal voice 		93 0 1 2.8E-03 0 0
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		92 0 1 2.8E-03 0 0
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		92 0 1 2.8E-03 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 1 2.8E-03 0 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		91 0 1 2.8E-03 0 0
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		91 0 1 2.8E-03 0 0
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		90 0 1 2.8E-03 0 0
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		89 0 1 2.8E-03 0 0
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		89 0 1 2.8E-03 0 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 1 2.8E-03 0 0
CUI: C1837463
Disease: Narrow face
Narrow face 		87 0 1 2.8E-03 0 0
CUI: C1867743
Disease: Premature coronary artery atherosclerosis
Premature coronary artery atherosclerosis 		87 0 1 2.8E-03 0 0
CUI: C2830004
Disease: Somnolence
Somnolence 		87 0 1 2.8E-03 0 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		87 0 1 2.8E-03 0 0